Overview of all single nucleotide polymorphisms and CS associated missense mutations in the coding region of COH1
| Exon | Nucleotide exchange | Alternative residues | Source | |||
|---|---|---|---|---|---|---|
| Synonymous polymorphisms | ||||||
| 25 | c.3855A→G | p.Leu1248Leu | rs1697391 | |||
| 39 | c.7038A→G | p.Val2346Val | This study | |||
| 40 | c.7227G→A | p.Pro2409Pro | This study | |||
| 52 | c.9566T→C | p.Ser3189Ser | This study | |||
| 56 | c.10140G→T | p.Ala3380Ala | This study | |||
| 57 | c.10980T→C | p.Pro3660Pro | This study | |||
| 61 | c.11640A→G | p.Ser3880Ser | rs7844645 | |||
| Non-synonymous polymorphisms | ||||||
| 17 | c.2485G→A | p.Ala829Thr | This study | |||
| 18 | c.2596G→A | p.Val866Ile | This study | |||
| 34 | c.5980A→G | p.Ile1994Val | This study | |||
| 42 | c.7751T→C | p.Val2548Ala | rs7833870 | |||
| 46 | c.8465A→G | p.Tyr2822Cys | This study | |||
| 50 | c.9098C→A | p.Ala3033Glu | rs6992059 | |||
| 52 | c.9424A→G | p.Ser3142Arg | This study | |||
| 56 | c.10294G→A | p.Gly3432Arg | rs6468694 | |||
| Potentially pathogenic missense mutations | ||||||
| 37 | c.6578T→G | p.Leu2193Arg | Kolehmainen et al.5 | |||
| 39 | c.7022A→G | p.Tyr2341Cys | Hennies et al.7 | |||
| 43 | c.7934G→A | p.Gly2645Asp | Mochida et al.8 | |||
| 45 | c.8318C→T | p.Ser2773Leu | This study | |||
| 46 | c.8459T→C | p.Ile2820Thr | Falk et al.12 | |||
| 49 | c.8978A→G | p.Asn2993Ser | Kolehmainen et al.6 | |||